Mutagenetix > Incidental Mutations

Incidental Mutation 'R5615:Mprip'

438205

Institutional Source

Beutler Lab

Gene Symbol

Mprip

Ensembl Gene

ENSMUSG00000005417

Gene Name

myosin phosphatase Rho interacting protein

Synonyms

p116Rip, Rhoip3, RIP3, p116 Rho interacting protein

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.444) question?

Stock #

R5615 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

59661305-59780860 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59758487 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1006 (T1006S)

Ref Sequence

ENSEMBL: ENSMUSP00000071081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066330] [ENSMUST00000072031] [ENSMUST00000108751] [ENSMUST00000116371] [ENSMUST00000133861]

Predicted Effect

probably benign
Transcript: ENSMUST00000066330
AA Change: T1006S

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071081
Gene: ENSMUSG00000005417
AA Change: T1006S

Domain	Start	End	E-Value	Type
PH	44	152	3.33e-10	SMART
low complexity region	179	190	N/A	INTRINSIC
low complexity region	221	234	N/A	INTRINSIC
Blast:PH	249	320	1e-10	BLAST
PH	351	448	3.76e-18	SMART
low complexity region	492	501	N/A	INTRINSIC
low complexity region	536	555	N/A	INTRINSIC
coiled coil region	636	671	N/A	INTRINSIC
Blast:PAC	806	848	2e-10	BLAST
low complexity region	1005	1023	N/A	INTRINSIC
low complexity region	1047	1059	N/A	INTRINSIC
low complexity region	1114	1128	N/A	INTRINSIC
low complexity region	1183	1200	N/A	INTRINSIC
coiled coil region	1267	1300	N/A	INTRINSIC
coiled coil region	1617	1642	N/A	INTRINSIC
coiled coil region	1729	1779	N/A	INTRINSIC
coiled coil region	1899	1936	N/A	INTRINSIC
coiled coil region	1960	2110	N/A	INTRINSIC
coiled coil region	2132	2206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072031

SMART Domains

Protein: ENSMUSP00000071914
Gene: ENSMUSG00000005417

Domain	Start	End	E-Value	Type
PH	44	152	3.33e-10	SMART
low complexity region	179	190	N/A	INTRINSIC
low complexity region	221	234	N/A	INTRINSIC
Blast:PH	254	320	1e-10	BLAST
PH	387	484	3.76e-18	SMART
low complexity region	528	537	N/A	INTRINSIC
low complexity region	572	591	N/A	INTRINSIC
coiled coil region	672	707	N/A	INTRINSIC
coiled coil region	728	878	N/A	INTRINSIC
coiled coil region	900	974	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108751

SMART Domains

Protein: ENSMUSP00000104382
Gene: ENSMUSG00000005417

Domain	Start	End	E-Value	Type
PH	44	152	3.33e-10	SMART
low complexity region	183	196	N/A	INTRINSIC
Blast:PH	216	282	1e-10	BLAST
PH	349	446	3.76e-18	SMART
low complexity region	490	499	N/A	INTRINSIC
low complexity region	534	553	N/A	INTRINSIC
coiled coil region	634	669	N/A	INTRINSIC
coiled coil region	690	840	N/A	INTRINSIC
coiled coil region	862	936	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116371

SMART Domains

Protein: ENSMUSP00000112072
Gene: ENSMUSG00000005417

Domain	Start	End	E-Value	Type
PH	44	152	3.33e-10	SMART
low complexity region	179	190	N/A	INTRINSIC
low complexity region	221	234	N/A	INTRINSIC
Blast:PH	254	320	1e-10	BLAST
PH	387	484	3.76e-18	SMART
low complexity region	528	537	N/A	INTRINSIC
low complexity region	572	591	N/A	INTRINSIC
coiled coil region	672	707	N/A	INTRINSIC
coiled coil region	728	878	N/A	INTRINSIC
coiled coil region	900	974	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132620

SMART Domains

Protein: ENSMUSP00000119422
Gene: ENSMUSG00000005417

Domain	Start	End	E-Value	Type
low complexity region	26	37	N/A	INTRINSIC
low complexity region	68	81	N/A	INTRINSIC
Blast:PH	101	167	9e-11	BLAST
PH	198	295	3.76e-18	SMART
low complexity region	339	348	N/A	INTRINSIC
low complexity region	383	402	N/A	INTRINSIC
coiled coil region	482	517	N/A	INTRINSIC
coiled coil region	538	688	N/A	INTRINSIC
coiled coil region	710	784	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133861

SMART Domains

Protein: ENSMUSP00000119562
Gene: ENSMUSG00000005417

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
low complexity region	47	58	N/A	INTRINSIC
low complexity region	89	102	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
low complexity region	259	269	N/A	INTRINSIC
PH	373	470	3.76e-18	SMART
low complexity region	514	523	N/A	INTRINSIC
low complexity region	558	577	N/A	INTRINSIC
coiled coil region	658	693	N/A	INTRINSIC
coiled coil region	714	864	N/A	INTRINSIC
coiled coil region	886	960	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156111

SMART Domains

Protein: ENSMUSP00000114446
Gene: ENSMUSG00000005417

Domain	Start	End	E-Value	Type
internal_repeat_1	5	38	1.61e-7	PROSPERO
internal_repeat_2	9	51	2.4e-6	PROSPERO
internal_repeat_1	59	92	1.61e-7	PROSPERO
internal_repeat_2	85	129	2.4e-6	PROSPERO
coiled coil region	140	177	N/A	INTRINSIC
coiled coil region	201	351	N/A	INTRINSIC
coiled coil region	373	447	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,606,759	L407H	probably damaging	Het
Abca12	A	T	1: 71,307,059	L884H	probably damaging	Het
Ahr	A	G	12: 35,503,885	V745A	probably benign	Het
Ankrd17	A	T	5: 90,283,436	S830T	possibly damaging	Het
Aox1	A	G	1: 58,096,966	T1123A	probably benign	Het
Arhgef11	T	C	3: 87,722,485		probably null	Het
Bcas3	T	A	11: 85,470,761	C250S	probably damaging	Het
Bckdk	T	C	7: 127,907,317	I272T	probably damaging	Het
Cacna1e	T	C	1: 154,412,170	K1897E	probably damaging	Het
Cd180	A	T	13: 102,706,203	I586F	probably benign	Het
Cep290	A	G	10: 100,531,150	D1121G	probably damaging	Het
Clasrp	A	G	7: 19,586,447		probably benign	Het
Col27a1	G	T	4: 63,281,114	K912N	probably damaging	Het
Dock4	G	T	12: 40,649,480	R231L	probably benign	Het
Ell	G	A	8: 70,590,732	S505N	probably benign	Het
Ephb6	A	G	6: 41,619,291	T833A	probably benign	Het
Hemk1	T	A	9: 107,330,824		probably null	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hspa12a	T	C	19: 58,804,650	I368V	possibly damaging	Het
Igkv3-3	A	T	6: 70,687,230	T19S	probably benign	Het
Itpr1	G	A	6: 108,488,600	A2158T	possibly damaging	Het
Lancl2	T	C	6: 57,722,511	Y104H	probably damaging	Het
Leng8	G	T	7: 4,144,958	E634*	probably null	Het
Lrrk1	A	T	7: 66,287,615	C930S	probably damaging	Het
Lvrn	C	T	18: 46,850,328	S46L	possibly damaging	Het
Mcidas	G	A	13: 112,997,425	V148I	probably benign	Het
Mrgprb3	T	A	7: 48,643,486	M106L	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mtor	G	A	4: 148,538,276	V1938I	possibly damaging	Het
Muc2	A	G	7: 141,691,203	D46G	probably damaging	Het
Nfkb2	G	T	19: 46,307,567	E170D	probably benign	Het
Olfr1113	T	A	2: 87,213,739	F282L	probably benign	Het
Olfr811	A	T	10: 129,801,767	C253S	probably damaging	Het
Osbp2	C	T	11: 3,863,356	G171D	probably benign	Het
Otud6b	A	T	4: 14,818,187	M238K	possibly damaging	Het
Pcdhac2	G	A	18: 37,146,423	G819R	probably benign	Het
Pcdhac2	G	T	18: 37,146,424	G819V	probably benign	Het
Pcdhga12	T	G	18: 37,768,079	S655A	probably damaging	Het
Pkd1l3	A	G	8: 109,630,210	I756V	probably benign	Het
Plekhd1	T	A	12: 80,720,590	S251T	probably damaging	Het
Ppp2r1a	A	T	17: 20,958,987	T96S	probably benign	Het
Qser1	A	C	2: 104,789,694	S258A	possibly damaging	Het
Rsph4a	G	A	10: 33,909,328	A412T	probably benign	Het
Sass6	T	A	3: 116,607,486	C159S	probably benign	Het
Scaf4	T	C	16: 90,251,960	Q322R	unknown	Het
Sema6d	C	T	2: 124,656,901	H244Y	probably damaging	Het
Sigirr	T	G	7: 141,092,719	L163F	probably damaging	Het
Spata31d1c	C	A	13: 65,035,264	L207I	possibly damaging	Het
Tacstd2	A	G	6: 67,535,049	F220L	probably damaging	Het
Tdpoz4	A	T	3: 93,797,499	T368S	probably benign	Het
Tnxb	C	A	17: 34,683,418	Q1082K	probably damaging	Het
Trim41	GCCTAGGCGCCCA	G	11: 48,807,365		probably benign	Het
Trpm6	C	T	19: 18,829,933	R1014C	probably damaging	Het
Ugt1a10	TTCATCA	TTCA	1: 88,216,158		probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r61	A	G	7: 42,300,493	E779G	probably damaging	Het
Vmn2r61	T	A	7: 42,267,253	M430K	probably benign	Het
Zfp599	T	C	9: 22,253,869	D70G	probably benign	Het
Zmym1	A	T	4: 127,049,398	I301N	probably damaging	Het

Other mutations in Mprip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Mprip	APN	11	59748591	missense	probably benign	0.07
IGL00563:Mprip	APN	11	59752617	missense	probably damaging	1.00
IGL00905:Mprip	APN	11	59772168	missense	possibly damaging	0.79
IGL00928:Mprip	APN	11	59744752	missense	probably damaging	1.00
IGL01161:Mprip	APN	11	59731573	missense	possibly damaging	0.93
IGL01991:Mprip	APN	11	59755012	missense	probably damaging	0.99
IGL02491:Mprip	APN	11	59770031	missense	probably benign	0.13
IGL03030:Mprip	APN	11	59741115	splice site	probably null
IGL03056:Mprip	APN	11	59771692	missense	probably damaging	1.00
IGL03293:Mprip	APN	11	59696163	missense	probably damaging	1.00
R0049:Mprip	UTSW	11	59766745	missense	probably damaging	0.99
R0097:Mprip	UTSW	11	59758491	missense	possibly damaging	0.90
R0097:Mprip	UTSW	11	59758491	missense	possibly damaging	0.90
R0147:Mprip	UTSW	11	59737073	missense	possibly damaging	0.68
R0319:Mprip	UTSW	11	59697038	splice site	probably benign
R0471:Mprip	UTSW	11	59759735	missense	probably damaging	1.00
R0539:Mprip	UTSW	11	59741117	splice site	probably benign
R0627:Mprip	UTSW	11	59769972	missense	probably damaging	1.00
R0864:Mprip	UTSW	11	59758761	missense	probably benign
R1218:Mprip	UTSW	11	59743814	missense	probably damaging	1.00
R1469:Mprip	UTSW	11	59759190	missense	probably damaging	1.00
R1469:Mprip	UTSW	11	59759190	missense	probably damaging	1.00
R1695:Mprip	UTSW	11	59752531	missense	probably damaging	0.99
R1698:Mprip	UTSW	11	59760258	missense	possibly damaging	0.75
R1802:Mprip	UTSW	11	59755041	missense	probably damaging	1.00
R1837:Mprip	UTSW	11	59766745	missense	probably damaging	0.99
R1862:Mprip	UTSW	11	59758221	missense	possibly damaging	0.90
R2094:Mprip	UTSW	11	59749508	splice site	probably benign
R2107:Mprip	UTSW	11	59769891	missense	probably damaging	1.00
R2108:Mprip	UTSW	11	59769891	missense	probably damaging	1.00
R2510:Mprip	UTSW	11	59749508	splice site	probably benign
R3003:Mprip	UTSW	11	59727555	missense	possibly damaging	0.95
R3115:Mprip	UTSW	11	59765403	splice site	probably null
R3941:Mprip	UTSW	11	59731502	splice site	probably benign
R4347:Mprip	UTSW	11	59759453	missense	possibly damaging	0.86
R4603:Mprip	UTSW	11	59731573	missense	probably damaging	1.00
R4807:Mprip	UTSW	11	59758020	missense	probably benign	0.00
R5011:Mprip	UTSW	11	59759895	missense	possibly damaging	0.75
R5338:Mprip	UTSW	11	59760573	missense	probably damaging	1.00
R5549:Mprip	UTSW	11	59760818	missense	probably benign	0.00
R5569:Mprip	UTSW	11	59760963	missense	probably damaging	1.00
R5604:Mprip	UTSW	11	59758467	missense	probably benign
R5846:Mprip	UTSW	11	59758554	missense	probably damaging	1.00
R5970:Mprip	UTSW	11	59757721	missense	probably damaging	0.96
R6054:Mprip	UTSW	11	59758425	missense	probably benign
R6452:Mprip	UTSW	11	59752783	missense	probably damaging	1.00
R6457:Mprip	UTSW	11	59758989	missense	possibly damaging	0.69
R6544:Mprip	UTSW	11	59757726	missense	probably benign	0.15
R6750:Mprip	UTSW	11	59696131	missense	probably damaging	1.00
R6843:Mprip	UTSW	11	59759728	missense	possibly damaging	0.54
R6851:Mprip	UTSW	11	59759015	missense	probably damaging	0.99
R6867:Mprip	UTSW	11	59749630	critical splice donor site	probably null
R7002:Mprip	UTSW	11	59761190	missense	probably benign	0.22
R7023:Mprip	UTSW	11	59737389	missense	probably damaging	1.00
R7764:Mprip	UTSW	11	59764416	missense	probably damaging	0.99
R7765:Mprip	UTSW	11	59758221	missense	possibly damaging	0.90
R7828:Mprip	UTSW	11	59737089	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGCCCAGCATGTACAGAGC -3'
(R):5'- CCTTGGCATCCTTTGGAGAATC -3'

Sequencing Primer
(F):5'- GCATGTACAGAGCCTCCATGATG -3'
(R):5'- GGCATCCTTTGGAGAATCACTCAC -3'

Posted On

2016-10-26